GeneID: 1

Description:
HS-40 is an erythroid-specific DNAse I hypersensitive site and is the major regulatory element of the human α-globin locus, located 40 kb upstream of the ζ-globin gene of the human alpha globin gene cluster. The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven alpha like globin genes and pseudogenes: 5'- HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1 -3'. Analysis of HS-40 has shown that it contains multiple binding sites for the erythroid-restricted transcription factors GATA1 and NF-E2. Removal of HS-40 site from a mouse model which recapitulates human α globin expression severely reduces α globin expression.

Synonyms: MCS-R2

Comments:
N/A

Number of entries/variants: 80

1. Sharpe JA, Chan-Thomas PS, Lida J, Ayyub H, Wood WG, Higgs DR, Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice., EMBO J. , 11(12), 4565-72, 1992 PubMed
2. Chen H, Lowrey CH, Stamatoyannopoulos G, Analysis of enhancer function of the HS-40 core sequence of the human alpha-globin cluster., Nucleic Acids Res. , 25(14), 2917-22, 1997 PubMed
3. Rugless MJ, Fisher CA, Old JM, Sloane-Stanley J, Ayyub H, Higgs DR, Garrick D, A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype., Hum. Mol. Genet. , 17(19), 3084-93, 2008 PubMed
4. Higgs DR, Wood WG, Long-range regulation of alpha globin gene expression during erythropoiesis., Curr. Opin. Hematol. , 15(3), 176-83, 2008 PubMed